Cytochrome oxidase deficiency: immunological studies of skeletal muscle mitochondrial fractions.

Abstract:

:We report a 2-year-old girl who presented with delayed development, weakness and persistent vomiting. She had a demyelinating peripheral neuropathy. The activity of cytochrome oxidase in skeletal muscle from the patient was 10% of controls. Immunochemical studies using antibodies to holo-cytochrome oxidase and the individual subunits showed a low concentration of all detectable subunits.

journal_name

J Neurol Sci

authors

Shepherd IM,Birch-Machin MA,Johnson MA,Sherratt HS,Aynsley-Green A,Droste M,Kadenbach B,Stephenson JB,King MD,Dick DJ

doi

10.1016/0022-510x(88)90251-1

subject

Has Abstract,Author List Incomplete

pub_date

1988-11-01 00:00:00

pages

265-74

issue

2-3

eissn

0022-510X

issn

1878-5883

pii

0022-510X(88)90251-1

journal_volume

87

pub_type

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